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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Gaucher disease - ophthalmoplegia - cardiovascular calcification
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Accession:EFO:Orphanet:2072 term browser browse the term
Definition:Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Comment:"orphanet"
Synonyms:exact_synonym: Cardiovascular Gaucher disease;   Gaucher disease type 3C;   Gaucher-like disease
 xref: ICD10:E75.2;   MIM:231005;   UMLS:C2931585


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of visual system 0
            eye disease 0
              Gaucher disease 0
                Gaucher disease - ophthalmoplegia - cardiovascular calcification 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    Gaucher disease 0
                      Gaucher disease - ophthalmoplegia - cardiovascular calcification 0
paths to the root